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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/300354
http://purl.bioontology.org/ontology/OMIM/300354
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE |
| Synonyms |
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, SYNDROMIC 15
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
MRSS
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE
MRXSC
CABEZAS SYNDROME
MRXS15
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, SYNDROMIC 15
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
MRSS
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE
MRXSC
CABEZAS SYNDROME
MRXS15
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|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE
|
| Gene Symbol |
MRXS15
CUL4B
MRXSC
MRXHF2
SFM2
|
| Scope Statement | Dysmorphic facial features are variable [MISCELLANEOUS]
Caused by mutation in the cullin 4B gene (CUL4B, 300304.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xq23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 300354
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1845861
|
| Moved from |
300639
300360
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |